Literature DB >> 7958875

Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing.

J A Epstein1, T Glaser, J Cai, L Jepeal, D S Walton, R L Maas.   

Abstract

Vertebrate Pax proteins share a conserved 128-amino-acid DNA-binding motif, the paired domain. The PAX6 gene, which is mutated in the murine Small eye and human aniridia developmental defects, also encodes a second protein with a 14-amino-acid insertion in the paired domain. This protein, which arises by alternative mRNA splicing, exhibits unique DNA-binding properties. Unlike other paired domains, which bind DNA predominantly by their amino termini, the extended Pax6 paired domain interacts with DNA exclusively through its carboxyl terminus. This property can be stimulated by deletion of 30 amino-terminal residues from the Pax6 or Pax2 paired domains. Thus, the insertion acts as a molecular toggle to unmask the DNA-binding potential of the carboxyl terminus. The functional nonequivalence of the two Pax6 proteins is underscored by a T-->C mutation at position -3 of the alternative splice acceptor site that changes the ratio of the two isoforms and causes a distinct human ocular syndrome.

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Year:  1994        PMID: 7958875     DOI: 10.1101/gad.8.17.2022

Source DB:  PubMed          Journal:  Genes Dev        ISSN: 0890-9369            Impact factor:   11.361


  128 in total

1.  Quantitation of PAX6 and PAX6(5a) transcript levels in adult human lens, cornea, and monkey retina.

Authors:  W Zhang; K Cveklova; B Oppermann; M Kantorow; A Cvekl
Journal:  Mol Vis       Date:  2001-01-02       Impact factor: 2.367

2.  The eyeless homeodomain is dispensable for eye development in Drosophila.

Authors:  C Punzo; S Kurata; W J Gehring
Journal:  Genes Dev       Date:  2001-07-01       Impact factor: 11.361

3.  Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development.

Authors:  Y Kamachi; M Uchikawa; A Tanouchi; R Sekido; H Kondoh
Journal:  Genes Dev       Date:  2001-05-15       Impact factor: 11.361

4.  Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding.

Authors:  H E Xu; M A Rould; W Xu; J A Epstein; R L Maas; C O Pabo
Journal:  Genes Dev       Date:  1999-05-15       Impact factor: 11.361

5.  PAX6 expression in the developing human eye.

Authors:  S Nishina; S Kohsaka; Y Yamaguchi; H Handa; A Kawakami; H Fujisawa; N Azuma
Journal:  Br J Ophthalmol       Date:  1999-06       Impact factor: 4.638

6.  A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly.

Authors:  Y Nanjo; S Kawasaki; K Mori; C Sotozono; T Inatomi; S Kinoshita
Journal:  Br J Ophthalmol       Date:  2004-05       Impact factor: 4.638

7.  The multiassembly problem: reconstructing multiple transcript isoforms from EST fragment mixtures.

Authors:  Yi Xing; Alissa Resch; Christopher Lee
Journal:  Genome Res       Date:  2004-02-12       Impact factor: 9.043

8.  The orchestration of mammalian tissue morphogenesis through a series of coherent feed-forward loops.

Authors:  Qing Xie; Ales Cvekl
Journal:  J Biol Chem       Date:  2011-10-13       Impact factor: 5.157

9.  Facilitated DNA search by multidomain transcription factors: cross talk via a flexible linker.

Authors:  Dana Vuzman; Michal Polonsky; Yaakov Levy
Journal:  Biophys J       Date:  2010-08-09       Impact factor: 4.033

10.  Sumoylation activates the transcriptional activity of Pax-6, an important transcription factor for eye and brain development.

Authors:  Qin Yan; Lili Gong; Mi Deng; Lan Zhang; Shuming Sun; Jiao Liu; Haili Ma; Dan Yuan; Pei-Chao Chen; Xiaohui Hu; Jinping Liu; Jichao Qin; Ling Xiao; Xiao-Qin Huang; Jian Zhang; David Wan-Cheng Li
Journal:  Proc Natl Acad Sci U S A       Date:  2010-11-17       Impact factor: 11.205

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